Canonical Allele Identifier: CA490206425

Gene: PATL2

Linked Data

• gnomAD v4: 15-44711160-A-C
• MyVariant Identifiers: chr15:g.45003358A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711160A>C , CM000677.2:g.44711160A>C	GRCh38
NC_000015.9:g.45003358A>C , CM000677.1:g.45003358A>C	GRCh37
NC_000015.8:g.42790650A>C	NCBI36
NG_012920.1:g.4674A>C
NG_012920.2:g.4684A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-394T>G MANE Select	ENSP00000508024.1:n.-394T>G
ENST00000558573.1:n.157T>G
XM_011521338.1:c.-394T>G	XP_011519640.1:n.-394T>G
XM_011521339.1:c.-275T>G	XP_011519641.1:n.-275T>G
XM_011521340.1:c.-216T>G	XP_011519642.1:n.-216T>G
XM_011521343.1:c.-478T>G	XP_011519645.1:n.-478T>G
XM_011521345.1:c.-449T>G	XP_011519647.1:n.-449T>G
XM_011521338.3:c.-394T>G	XP_011519640.1:n.-394T>G
XM_011521339.3:c.-275T>G	XP_011519641.1:n.-275T>G
XM_011521340.3:c.-216T>G	XP_011519642.1:n.-216T>G
XM_011521343.3:c.-478T>G	XP_011519645.1:n.-478T>G
XM_011521345.3:c.-449T>G	XP_011519647.1:n.-449T>G
NM_001387260.1:c.-76+172T>G	NP_001374189.1:n.-76+172T>G
NM_001387261.1:c.-216T>G	NP_001374190.1:n.-216T>G
NM_001387262.1:c.-484T>G	NP_001374191.1:n.-484T>G
NM_001387263.1:c.-394T>G MANE Select	NP_001374192.1:n.-394T>G