Canonical Allele Identifier: CA2090561

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs772078473
• ExAC: 2:215797401 G / A
• gnomAD v2: 2-215797401-G-A
• gnomAD v3: 2-214932677-G-A
• gnomAD v4: 2-214932677-G-A
• MyVariant Identifiers: chr2:g.215797401G>A (hg19) ; chr2:g.214932677G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932677G>A , CM000664.2:g.214932677G>A	GRCh38
NC_000002.11:g.215797401G>A , CM000664.1:g.215797401G>A	GRCh37
NC_000002.10:g.215505646G>A	NCBI36
NG_007074.1:g.210751C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.7745C>T (ABCA12) MANE Select	ENSP00000272895.7:p.Ser2582Phe
ENST00000272895.11:c.7745C>T (ABCA12)	ENSP00000272895.7:p.Ser2582Phe
ENST00000389661.4:c.6791C>T (ABCA12)	ENSP00000374312.4:p.Ser2264Phe
NM_015657.3:c.6791C>T (ABCA12)	NP_056472.2:p.Ser2264Phe
NM_173076.2:c.7745C>T (ABCA12)	NP_775099.2:p.Ser2582Phe
NR_103740.1:n.8045C>T (ABCA12)
NR_110292.1:n.322-15148G>A (SNHG31)
XM_011510951.1:c.7754C>T (ABCA12)	XP_011509253.1:p.Ser2585Phe
XM_011510951.2:c.7754C>T (ABCA12)	XP_011509253.1:p.Ser2585Phe
NM_173076.3:c.7745C>T (ABCA12) MANE Select	NP_775099.2:p.Ser2582Phe
NR_103740.2:n.8243C>T (ABCA12)
NM_015657.4:c.6791C>T (ABCA12)	NP_056472.2:p.Ser2264Phe