Canonical Allele Identifier: CA350792402

Gene: ABCA12 SNHG31

Linked Data

• gnomAD v4: 2-214932686-C-T
• MyVariant Identifiers: chr2:g.215797410C>T (hg19) ; chr2:g.214932686C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932686C>T , CM000664.2:g.214932686C>T	GRCh38
NC_000002.11:g.215797410C>T , CM000664.1:g.215797410C>T	GRCh37
NC_000002.10:g.215505655C>T	NCBI36
NG_007074.1:g.210742G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.7736G>A (ABCA12) MANE Select	ENSP00000272895.7:p.Ser2579Asn
ENST00000272895.11:c.7736G>A (ABCA12)	ENSP00000272895.7:p.Ser2579Asn
ENST00000389661.4:c.6782G>A (ABCA12)	ENSP00000374312.4:p.Ser2261Asn
NM_015657.3:c.6782G>A (ABCA12)	NP_056472.2:p.Ser2261Asn
NM_173076.2:c.7736G>A (ABCA12)	NP_775099.2:p.Ser2579Asn
NR_103740.1:n.8036G>A (ABCA12)
NR_110292.1:n.322-15139C>T (SNHG31)
XM_011510951.1:c.7745G>A (ABCA12)	XP_011509253.1:p.Ser2582Asn
XM_011510951.2:c.7745G>A (ABCA12)	XP_011509253.1:p.Ser2582Asn
NM_173076.3:c.7736G>A (ABCA12) MANE Select	NP_775099.2:p.Ser2579Asn
NR_103740.2:n.8234G>A (ABCA12)
NM_015657.4:c.6782G>A (ABCA12)	NP_056472.2:p.Ser2261Asn