Canonical Allele Identifier: CA3422838

Gene: MYOT PKD2L2-DT

Linked Data

• dbSNP Id: rs753315647
• ExAC: 5:137206399 G / C
• gnomAD v2: 5-137206399-G-C
• MyVariant Identifiers: chr5:g.137206399G>C (hg19) ; chr5:g.137870710G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137870710G>C , CM000667.2:g.137870710G>C	GRCh38
NC_000005.9:g.137206399G>C , CM000667.1:g.137206399G>C	GRCh37
NC_000005.8:g.137234298G>C	NCBI36
NG_008894.1:g.7855G>C , LRG_201:g.7855G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239926.9:c.59G>C (MYOT) MANE Select	ENSP00000239926.4:p.Arg20Thr
ENST00000239926.8:c.59G>C (MYOT)	ENSP00000239926.4:p.Arg20Thr
ENST00000421631.6:c.-197+185G>C (MYOT)	ENSP00000391185.2:n.-197+185G>C
ENST00000509812.5:n.179+185G>C (MYOT)
ENST00000511625.5:n.179+185G>C (MYOT)
ENST00000515645.1:c.-120-167G>C (MYOT)	ENSP00000426281.1:n.-120-167G>C
NM_001135940.1:c.-197+185G>C (MYOT)	NP_001129412.1:n.-197+185G>C
NM_001300911.1:c.-120-167G>C (MYOT)	NP_001287840.1:n.-120-167G>C
NM_006790.2:c.59G>C , LRG_201t1:c.59G>C (MYOT)	NP_006781.1:p.Arg20Thr
XR_948815.1:n.220-11447C>G (PKD2L2-DT)
XR_948816.1:n.58-11447C>G (PKD2L2-DT)
XM_017010060.1:c.-355-167G>C (MYOT)	XP_016865549.1:n.-355-167G>C
XM_017010061.1:c.-522G>C (MYOT)	XP_016865550.1:n.-522G>C
XM_017010062.1:c.-225+185G>C (MYOT)	XP_016865551.1:n.-225+185G>C
XR_948815.2:n.347-11447C>G (PKD2L2-DT)
NM_001135940.2:c.-197+185G>C (MYOT)	NP_001129412.1:n.-197+185G>C
NM_001300911.2:c.-120-167G>C (MYOT)	NP_001287840.1:n.-120-167G>C
NM_006790.3:c.59G>C (MYOT) MANE Select	NP_006781.1:p.Arg20Thr