Canonical Allele Identifier: CA270113896

Gene: PATL2

Linked Data

• dbSNP Id: rs925880366
• MyVariant Identifiers: chr15:g.45003215T>C (hg19) ; chr15:g.44711017T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711017T>C , CM000677.2:g.44711017T>C	GRCh38
NC_000015.9:g.45003215T>C , CM000677.1:g.45003215T>C	GRCh37
NC_000015.8:g.42790507T>C	NCBI36
NG_012920.1:g.4531T>C
NG_012920.2:g.4541T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-254+3A>G MANE Select	ENSP00000508024.1:n.-254+3A>G
ENST00000558573.1:n.297+3A>G
XM_011521338.1:c.-254+3A>G	XP_011519640.1:n.-254+3A>G
XM_011521339.1:c.-135+3A>G	XP_011519641.1:n.-135+3A>G
XM_011521340.1:c.-76+3A>G	XP_011519642.1:n.-76+3A>G
XM_011521343.1:c.-338+3A>G	XP_011519645.1:n.-338+3A>G
XM_011521345.1:c.-309+3A>G	XP_011519647.1:n.-309+3A>G
XM_011521338.3:c.-254+3A>G	XP_011519640.1:n.-254+3A>G
XM_011521339.3:c.-135+3A>G	XP_011519641.1:n.-135+3A>G
XM_011521340.3:c.-76+3A>G	XP_011519642.1:n.-76+3A>G
XM_011521343.3:c.-338+3A>G	XP_011519645.1:n.-338+3A>G
XM_011521345.3:c.-309+3A>G	XP_011519647.1:n.-309+3A>G
NM_001387260.1:c.-76+315A>G	NP_001374189.1:n.-76+315A>G
NM_001387261.1:c.-76+3A>G	NP_001374190.1:n.-76+3A>G
NM_001387262.1:c.-341A>G	NP_001374191.1:n.-341A>G
NM_001387263.1:c.-254+3A>G MANE Select	NP_001374192.1:n.-254+3A>G