Canonical Allele Identifier: CA2090710

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs747667327
• ExAC: 2:215812121 C / T
• gnomAD v2: 2-215812121-C-T
• gnomAD v4: 2-214947397-C-T
• MyVariant Identifiers: chr2:g.215812121C>T (hg19) ; chr2:g.214947397C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214947397C>T , CM000664.2:g.214947397C>T	GRCh38
NC_000002.11:g.215812121C>T , CM000664.1:g.215812121C>T	GRCh37
NC_000002.10:g.215520366C>T	NCBI36
NG_007074.1:g.196031G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.7239+25G>A (ABCA12) MANE Select	ENSP00000272895.7:n.7239+25G>A
ENST00000272895.11:c.7239+25G>A (ABCA12)	ENSP00000272895.7:n.7239+25G>A
ENST00000389661.4:c.6285+25G>A (ABCA12)	ENSP00000374312.4:n.6285+25G>A
NM_015657.3:c.6285+25G>A (ABCA12)	NP_056472.2:n.6285+25G>A
NM_173076.2:c.7239+25G>A (ABCA12)	NP_775099.2:n.7239+25G>A
NR_103740.1:n.7539+25G>A (ABCA12)
NR_110292.1:n.322-428C>T (SNHG31)
XM_011510951.1:c.7248+25G>A (ABCA12)	XP_011509253.1:n.7248+25G>A
XM_011510951.2:c.7248+25G>A (ABCA12)	XP_011509253.1:n.7248+25G>A
NM_173076.3:c.7239+25G>A (ABCA12) MANE Select	NP_775099.2:n.7239+25G>A
NR_103740.2:n.7737+25G>A (ABCA12)
NM_015657.4:c.6285+25G>A (ABCA12)	NP_056472.2:n.6285+25G>A