Canonical Allele Identifier: CA350792361

Gene: ABCA12 SNHG31

Linked Data

• MyVariant Identifiers: chr2:g.215797390C>G (hg19) ; chr2:g.214932666C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932666C>G , CM000664.2:g.214932666C>G	GRCh38
NC_000002.11:g.215797390C>G , CM000664.1:g.215797390C>G	GRCh37
NC_000002.10:g.215505635C>G	NCBI36
NG_007074.1:g.210762G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.7756G>C (ABCA12) MANE Select	ENSP00000272895.7:p.Val2586Leu
ENST00000272895.11:c.7756G>C (ABCA12)	ENSP00000272895.7:p.Val2586Leu
ENST00000389661.4:c.6802G>C (ABCA12)	ENSP00000374312.4:p.Val2268Leu
NM_015657.3:c.6802G>C (ABCA12)	NP_056472.2:p.Val2268Leu
NM_173076.2:c.7756G>C (ABCA12)	NP_775099.2:p.Val2586Leu
NR_103740.1:n.8056G>C (ABCA12)
NR_110292.1:n.322-15159C>G (SNHG31)
XM_011510951.1:c.7765G>C (ABCA12)	XP_011509253.1:p.Val2589Leu
XM_011510951.2:c.7765G>C (ABCA12)	XP_011509253.1:p.Val2589Leu
NM_173076.3:c.7756G>C (ABCA12) MANE Select	NP_775099.2:p.Val2586Leu
NR_103740.2:n.8254G>C (ABCA12)
NM_015657.4:c.6802G>C (ABCA12)	NP_056472.2:p.Val2268Leu