Canonical Allele Identifier: CA490206514

Gene: PATL2

Linked Data

• gnomAD v4: 15-44711187-C-G
• MyVariant Identifiers: chr15:g.45003385C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711187C>G , CM000677.2:g.44711187C>G	GRCh38
NC_000015.9:g.45003385C>G , CM000677.1:g.45003385C>G	GRCh37
NC_000015.8:g.42790677C>G	NCBI36
NG_012920.1:g.4701C>G
NG_012920.2:g.4711C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-421G>C MANE Select	ENSP00000508024.1:n.-421G>C
ENST00000558573.1:n.130G>C
XM_011521338.1:c.-421G>C	XP_011519640.1:n.-421G>C
XM_011521339.1:c.-302G>C	XP_011519641.1:n.-302G>C
XM_011521340.1:c.-243G>C	XP_011519642.1:n.-243G>C
XM_011521343.1:c.-505G>C	XP_011519645.1:n.-505G>C
XM_011521345.1:c.-476G>C	XP_011519647.1:n.-476G>C
XM_011521338.3:c.-421G>C	XP_011519640.1:n.-421G>C
XM_011521339.3:c.-302G>C	XP_011519641.1:n.-302G>C
XM_011521340.3:c.-243G>C	XP_011519642.1:n.-243G>C
XM_011521343.3:c.-505G>C	XP_011519645.1:n.-505G>C
XM_011521345.3:c.-476G>C	XP_011519647.1:n.-476G>C
NM_001387260.1:c.-76+145G>C	NP_001374189.1:n.-76+145G>C
NM_001387261.1:c.-243G>C	NP_001374190.1:n.-243G>C
NM_001387262.1:c.-511G>C	NP_001374191.1:n.-511G>C
NM_001387263.1:c.-421G>C MANE Select	NP_001374192.1:n.-421G>C