Canonical Allele Identifier: CA490206374

Gene: PATL2

Linked Data

• gnomAD v4: 15-44711145-A-C
• MyVariant Identifiers: chr15:g.45003343A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711145A>C , CM000677.2:g.44711145A>C	GRCh38
NC_000015.9:g.45003343A>C , CM000677.1:g.45003343A>C	GRCh37
NC_000015.8:g.42790635A>C	NCBI36
NG_012920.1:g.4659A>C
NG_012920.2:g.4669A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-379T>G MANE Select	ENSP00000508024.1:n.-379T>G
ENST00000558573.1:n.172T>G
XM_011521338.1:c.-379T>G	XP_011519640.1:n.-379T>G
XM_011521339.1:c.-260T>G	XP_011519641.1:n.-260T>G
XM_011521340.1:c.-201T>G	XP_011519642.1:n.-201T>G
XM_011521343.1:c.-463T>G	XP_011519645.1:n.-463T>G
XM_011521345.1:c.-434T>G	XP_011519647.1:n.-434T>G
XM_011521338.3:c.-379T>G	XP_011519640.1:n.-379T>G
XM_011521339.3:c.-260T>G	XP_011519641.1:n.-260T>G
XM_011521340.3:c.-201T>G	XP_011519642.1:n.-201T>G
XM_011521343.3:c.-463T>G	XP_011519645.1:n.-463T>G
XM_011521345.3:c.-434T>G	XP_011519647.1:n.-434T>G
NM_001387260.1:c.-76+187T>G	NP_001374189.1:n.-76+187T>G
NM_001387261.1:c.-201T>G	NP_001374190.1:n.-201T>G
NM_001387262.1:c.-469T>G	NP_001374191.1:n.-469T>G
NM_001387263.1:c.-379T>G MANE Select	NP_001374192.1:n.-379T>G