Canonical Allele Identifier: CA270113949

Gene: PATL2

Linked Data

• dbSNP Id: rs549141057
• gnomAD v3: 15-44711185-C-G
• gnomAD v4: 15-44711185-C-G
• MyVariant Identifiers: chr15:g.45003383C>G (hg19) ; chr15:g.44711185C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711185C>G , CM000677.2:g.44711185C>G	GRCh38
NC_000015.9:g.45003383C>G , CM000677.1:g.45003383C>G	GRCh37
NC_000015.8:g.42790675C>G	NCBI36
NG_012920.1:g.4699C>G
NG_012920.2:g.4709C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-419G>C MANE Select	ENSP00000508024.1:n.-419G>C
ENST00000558573.1:n.132G>C
XM_011521338.1:c.-419G>C	XP_011519640.1:n.-419G>C
XM_011521339.1:c.-300G>C	XP_011519641.1:n.-300G>C
XM_011521340.1:c.-241G>C	XP_011519642.1:n.-241G>C
XM_011521343.1:c.-503G>C	XP_011519645.1:n.-503G>C
XM_011521345.1:c.-474G>C	XP_011519647.1:n.-474G>C
XM_011521338.3:c.-419G>C	XP_011519640.1:n.-419G>C
XM_011521339.3:c.-300G>C	XP_011519641.1:n.-300G>C
XM_011521340.3:c.-241G>C	XP_011519642.1:n.-241G>C
XM_011521343.3:c.-503G>C	XP_011519645.1:n.-503G>C
XM_011521345.3:c.-474G>C	XP_011519647.1:n.-474G>C
NM_001387260.1:c.-76+147G>C	NP_001374189.1:n.-76+147G>C
NM_001387261.1:c.-241G>C	NP_001374190.1:n.-241G>C
NM_001387262.1:c.-509G>C	NP_001374191.1:n.-509G>C
NM_001387263.1:c.-419G>C MANE Select	NP_001374192.1:n.-419G>C