Canonical Allele Identifier: CA490206344

Gene: PATL2

Linked Data

• dbSNP Id: rs1344700940
• gnomAD v3: 15-44711135-T-C
• gnomAD v4: 15-44711135-T-C
• MyVariant Identifiers: chr15:g.45003333T>C (hg19) ; chr15:g.44711135T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711135T>C , CM000677.2:g.44711135T>C	GRCh38
NC_000015.9:g.45003333T>C , CM000677.1:g.45003333T>C	GRCh37
NC_000015.8:g.42790625T>C	NCBI36
NG_012920.1:g.4649T>C
NG_012920.2:g.4659T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-369A>G MANE Select	ENSP00000508024.1:n.-369A>G
ENST00000558573.1:n.182A>G
XM_011521338.1:c.-369A>G	XP_011519640.1:n.-369A>G
XM_011521339.1:c.-250A>G	XP_011519641.1:n.-250A>G
XM_011521340.1:c.-191A>G	XP_011519642.1:n.-191A>G
XM_011521343.1:c.-453A>G	XP_011519645.1:n.-453A>G
XM_011521345.1:c.-424A>G	XP_011519647.1:n.-424A>G
XM_011521338.3:c.-369A>G	XP_011519640.1:n.-369A>G
XM_011521339.3:c.-250A>G	XP_011519641.1:n.-250A>G
XM_011521340.3:c.-191A>G	XP_011519642.1:n.-191A>G
XM_011521343.3:c.-453A>G	XP_011519645.1:n.-453A>G
XM_011521345.3:c.-424A>G	XP_011519647.1:n.-424A>G
NM_001387260.1:c.-76+197A>G	NP_001374189.1:n.-76+197A>G
NM_001387261.1:c.-191A>G	NP_001374190.1:n.-191A>G
NM_001387262.1:c.-459A>G	NP_001374191.1:n.-459A>G
NM_001387263.1:c.-369A>G MANE Select	NP_001374192.1:n.-369A>G