Canonical Allele Identifier: CA490206600

Gene: PATL2

Linked Data

• dbSNP Id: rs1232315594
• gnomAD v3: 15-44711216-C-G
• gnomAD v4: 15-44711216-C-G
• MyVariant Identifiers: chr15:g.45003414C>G (hg19) ; chr15:g.44711216C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711216C>G , CM000677.2:g.44711216C>G	GRCh38
NC_000015.9:g.45003414C>G , CM000677.1:g.45003414C>G	GRCh37
NC_000015.8:g.42790706C>G	NCBI36
NG_012920.1:g.4730C>G
NG_012920.2:g.4740C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-450G>C MANE Select	ENSP00000508024.1:n.-450G>C
ENST00000558573.1:n.101G>C
XM_011521338.1:c.-450G>C	XP_011519640.1:n.-450G>C
XM_011521339.1:c.-331G>C	XP_011519641.1:n.-331G>C
XM_011521340.1:c.-272G>C	XP_011519642.1:n.-272G>C
XM_011521343.1:c.-534G>C	XP_011519645.1:n.-534G>C
XM_011521345.1:c.-505G>C	XP_011519647.1:n.-505G>C
XM_011521338.3:c.-450G>C	XP_011519640.1:n.-450G>C
XM_011521339.3:c.-331G>C	XP_011519641.1:n.-331G>C
XM_011521340.3:c.-272G>C	XP_011519642.1:n.-272G>C
XM_011521343.3:c.-534G>C	XP_011519645.1:n.-534G>C
XM_011521345.3:c.-505G>C	XP_011519647.1:n.-505G>C
NM_001387260.1:c.-76+116G>C	NP_001374189.1:n.-76+116G>C
NM_001387261.1:c.-272G>C	NP_001374190.1:n.-272G>C
NM_001387262.1:c.-540G>C	NP_001374191.1:n.-540G>C
NM_001387263.1:c.-450G>C MANE Select	NP_001374192.1:n.-450G>C