Canonical Allele Identifier: CA490206366

Gene: PATL2

Linked Data

• gnomAD v4: 15-44711142-T-G
• MyVariant Identifiers: chr15:g.45003340T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711142T>G , CM000677.2:g.44711142T>G	GRCh38
NC_000015.9:g.45003340T>G , CM000677.1:g.45003340T>G	GRCh37
NC_000015.8:g.42790632T>G	NCBI36
NG_012920.1:g.4656T>G
NG_012920.2:g.4666T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-376A>C MANE Select	ENSP00000508024.1:n.-376A>C
ENST00000558573.1:n.175A>C
XM_011521338.1:c.-376A>C	XP_011519640.1:n.-376A>C
XM_011521339.1:c.-257A>C	XP_011519641.1:n.-257A>C
XM_011521340.1:c.-198A>C	XP_011519642.1:n.-198A>C
XM_011521343.1:c.-460A>C	XP_011519645.1:n.-460A>C
XM_011521345.1:c.-431A>C	XP_011519647.1:n.-431A>C
XM_011521338.3:c.-376A>C	XP_011519640.1:n.-376A>C
XM_011521339.3:c.-257A>C	XP_011519641.1:n.-257A>C
XM_011521340.3:c.-198A>C	XP_011519642.1:n.-198A>C
XM_011521343.3:c.-460A>C	XP_011519645.1:n.-460A>C
XM_011521345.3:c.-431A>C	XP_011519647.1:n.-431A>C
NM_001387260.1:c.-76+190A>C	NP_001374189.1:n.-76+190A>C
NM_001387261.1:c.-198A>C	NP_001374190.1:n.-198A>C
NM_001387262.1:c.-466A>C	NP_001374191.1:n.-466A>C
NM_001387263.1:c.-376A>C MANE Select	NP_001374192.1:n.-376A>C