Canonical Allele Identifier: CA15479860
Gene: EPB41L2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.130961070T>C , CM000668.2:g.130961070T>C GRCh38
NC_000006.11:g.131282210T>C , CM000668.1:g.131282210T>C GRCh37
NC_000006.10:g.131323903T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000706365.1:c.-14-4571A>G ENSP00000516350.1:n.-14-4571A>G
ENST00000337057.8:c.-14-4571A>G MANE Select ENSP00000338481.3:n.-14-4571A>G
ENST00000337057.7:c.-14-4571A>G ENSP00000338481.3:n.-14-4571A>G
ENST00000368128.6:c.-14-4571A>G ENSP00000357110.2:n.-14-4571A>G
ENST00000392427.7:c.-14-4571A>G ENSP00000376222.3:n.-14-4571A>G
ENST00000445890.6:c.-14-4571A>G ENSP00000402041.2:n.-14-4571A>G
ENST00000525271.5:c.-14-4571A>G ENSP00000432803.1:n.-14-4571A>G
ENST00000526333.1:n.103-34361A>G
ENST00000526983.1:c.-14-4571A>G ENSP00000432329.1:n.-14-4571A>G
ENST00000527411.5:c.-14-4571A>G ENSP00000436348.1:n.-14-4571A>G
ENST00000528179.5:n.92-34361A>G
ENST00000528282.5:c.-14-4571A>G ENSP00000434308.1:n.-14-4571A>G
ENST00000529208.5:c.-14-4571A>G ENSP00000436641.1:n.-14-4571A>G
ENST00000529709.1:c.-14-4571A>G ENSP00000436871.1:n.-14-4571A>G
ENST00000530148.5:n.136+9213A>G
ENST00000530481.5:c.-14-4571A>G ENSP00000434576.1:n.-14-4571A>G
ENST00000530707.1:c.-14-4571A>G ENSP00000435556.1:n.-14-4571A>G
ENST00000531356.1:c.-14-4571A>G ENSP00000436145.1:n.-14-4571A>G
ENST00000532499.1:c.-14-4571A>G ENSP00000432013.1:n.-14-4571A>G
ENST00000610431.4:c.-14-4571A>G ENSP00000477544.1:n.-14-4571A>G
ENST00000628542.2:c.-14-4571A>G ENSP00000486691.1:n.-14-4571A>G
NM_001135554.1:c.-14-4571A>G NP_001129026.1:n.-14-4571A>G
NM_001135555.3:c.-14-4571A>G NP_001129027.1:n.-14-4571A>G
NM_001199388.2:c.-14-4571A>G NP_001186317.1:n.-14-4571A>G
NM_001252660.1:c.-14-4571A>G NP_001239589.1:n.-14-4571A>G
NM_001431.3:c.-14-4571A>G NP_001422.1:n.-14-4571A>G
XM_005266840.1:c.-14-4571A>G XP_005266897.1:n.-14-4571A>G
XM_005266841.1:c.-14-4571A>G XP_005266898.1:n.-14-4571A>G
XM_006715356.1:c.-14-4571A>G XP_006715419.1:n.-14-4571A>G
XM_006715362.1:c.-14-4571A>G XP_006715425.1:n.-14-4571A>G
XM_011535521.1:c.-14-4571A>G XP_011533823.1:n.-14-4571A>G
XM_011535522.1:c.-14-4571A>G XP_011533824.1:n.-14-4571A>G
XM_011535523.1:c.-14-4571A>G XP_011533825.1:n.-14-4571A>G
XM_011535524.1:c.-14-4571A>G XP_011533826.1:n.-14-4571A>G
XM_011535525.1:c.-14-4571A>G XP_011533827.1:n.-14-4571A>G
XM_011535526.1:c.-14-4571A>G XP_011533828.1:n.-14-4571A>G
XM_011535527.1:c.-14-4571A>G XP_011533829.1:n.-14-4571A>G
XM_011535528.1:c.-14-4571A>G XP_011533830.1:n.-14-4571A>G
XM_011535529.1:c.-14-4571A>G XP_011533831.1:n.-14-4571A>G
XM_011535530.1:c.-14-4571A>G XP_011533832.1:n.-14-4571A>G
XM_011535531.1:c.-14-4571A>G XP_011533833.1:n.-14-4571A>G
XM_011535532.1:c.-14-4571A>G XP_011533834.1:n.-14-4571A>G
XM_011535533.1:c.-14-4571A>G XP_011533835.1:n.-14-4571A>G
XM_011535534.1:c.-14-4571A>G XP_011533836.1:n.-14-4571A>G
XM_011535535.1:c.-502+9213A>G XP_011533837.1:n.-502+9213A>G
XM_011535536.1:c.-14-4571A>G XP_011533838.1:n.-14-4571A>G
XR_942326.1:n.169-4571A>G
XR_942328.1:n.169-4571A>G
NM_001350299.1:c.-14-4571A>G NP_001337228.1:n.-14-4571A>G
NM_001350301.1:c.-14-4571A>G NP_001337230.1:n.-14-4571A>G
NM_001350302.1:c.-14-4571A>G NP_001337231.1:n.-14-4571A>G
NM_001350303.1:c.-14-4571A>G NP_001337232.1:n.-14-4571A>G
NM_001350304.1:c.-14-4571A>G NP_001337233.1:n.-14-4571A>G
NM_001350305.1:c.-14-4571A>G NP_001337234.1:n.-14-4571A>G
NM_001350306.1:c.-14-4571A>G NP_001337235.1:n.-14-4571A>G
NM_001350307.1:c.-14-4571A>G NP_001337236.1:n.-14-4571A>G
NM_001350308.1:c.-14-4571A>G NP_001337237.1:n.-14-4571A>G
NM_001350309.1:c.-14-4571A>G NP_001337238.1:n.-14-4571A>G
NM_001350310.1:c.-14-4571A>G NP_001337239.1:n.-14-4571A>G
NM_001350311.1:c.-14-4571A>G NP_001337240.1:n.-14-4571A>G
NM_001350312.1:c.-14-4571A>G NP_001337241.1:n.-14-4571A>G
NM_001350313.1:c.-14-4571A>G NP_001337242.1:n.-14-4571A>G
NM_001350314.1:c.-14-4571A>G NP_001337243.1:n.-14-4571A>G
NM_001350315.1:c.-14-4571A>G NP_001337244.1:n.-14-4571A>G
NM_001350320.1:c.-501-34361A>G NP_001337249.1:n.-501-34361A>G
NR_146620.1:n.169-34361A>G
XM_011535524.2:c.-14-4571A>G XP_011533826.1:n.-14-4571A>G
XM_011535525.2:c.-14-4571A>G XP_011533827.1:n.-14-4571A>G
XM_011535527.2:c.-14-4571A>G XP_011533829.1:n.-14-4571A>G
XM_011535528.2:c.-14-4571A>G XP_011533830.1:n.-14-4571A>G
XM_017010350.2:c.-14-4571A>G XP_016865839.1:n.-14-4571A>G
XM_017010351.1:c.-14-4571A>G XP_016865840.1:n.-14-4571A>G
XM_017010352.1:c.-14-4571A>G XP_016865841.1:n.-14-4571A>G
XM_017010353.2:c.-14-4571A>G XP_016865842.1:n.-14-4571A>G
XM_017010356.2:c.-14-4571A>G XP_016865845.1:n.-14-4571A>G
XM_017010364.1:c.-502+9213A>G XP_016865853.1:n.-502+9213A>G
XM_024446349.1:c.-14-4571A>G XP_024302117.1:n.-14-4571A>G
XR_001743213.2:n.98-4571A>G
XR_001743215.2:n.98-4571A>G
XR_001743216.2:n.98-4571A>G
XR_001743217.2:n.98-4571A>G
NM_001431.4:c.-14-4571A>G MANE Select NP_001422.1:n.-14-4571A>G
NM_001135554.2:c.-14-4571A>G NP_001129026.1:n.-14-4571A>G
NM_001135555.4:c.-14-4571A>G NP_001129027.1:n.-14-4571A>G
NM_001199388.3:c.-14-4571A>G NP_001186317.1:n.-14-4571A>G
NM_001252660.2:c.-14-4571A>G NP_001239589.1:n.-14-4571A>G
NM_001350299.2:c.-14-4571A>G NP_001337228.1:n.-14-4571A>G
NM_001350301.2:c.-14-4571A>G NP_001337230.1:n.-14-4571A>G
NM_001350302.2:c.-14-4571A>G NP_001337231.1:n.-14-4571A>G
NM_001350303.2:c.-14-4571A>G NP_001337232.1:n.-14-4571A>G
NM_001350304.2:c.-14-4571A>G NP_001337233.1:n.-14-4571A>G
NM_001350305.2:c.-14-4571A>G NP_001337234.1:n.-14-4571A>G
NM_001350306.2:c.-14-4571A>G NP_001337235.1:n.-14-4571A>G
NM_001350307.2:c.-14-4571A>G NP_001337236.1:n.-14-4571A>G
NM_001350308.2:c.-14-4571A>G NP_001337237.1:n.-14-4571A>G
NM_001350310.2:c.-14-4571A>G NP_001337239.1:n.-14-4571A>G
NM_001350311.2:c.-14-4571A>G NP_001337240.1:n.-14-4571A>G
NM_001350312.2:c.-14-4571A>G NP_001337241.1:n.-14-4571A>G
NM_001350313.2:c.-14-4571A>G NP_001337242.1:n.-14-4571A>G
NM_001350314.2:c.-14-4571A>G NP_001337243.1:n.-14-4571A>G
NM_001350315.2:c.-14-4571A>G NP_001337244.1:n.-14-4571A>G
NM_001350320.2:c.-501-34361A>G NP_001337249.1:n.-501-34361A>G
NR_146620.2:n.92-34361A>G
Search 100 bp 5'
Search 100 bp 3'