Canonical Allele Identifier: CA2091415

Gene: ABCA12

Linked Data

• ClinVar Variation Id: 2715596
• ClinVar RCV Id: RCV003545805 ; RCV003966482
• dbSNP Id: rs138177557
• ExAC: 2:215845258 G / A
• gnomAD v2: 2-215845258-G-A
• gnomAD v3: 2-214980534-G-A
• gnomAD v4: 2-214980534-G-A
• COSMIC: COSM3577451
• MyVariant Identifiers: chr2:g.215845258G>A (hg19) ; chr2:g.214980534G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980534G>A , CM000664.2:g.214980534G>A	GRCh38
NC_000002.11:g.215845258G>A , CM000664.1:g.215845258G>A	GRCh37
NC_000002.10:g.215553503G>A	NCBI36
NG_007074.1:g.162894C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.4689C>T MANE Select	ENSP00000272895.7:p.Tyr1563=
ENST00000272895.11:c.4689C>T	ENSP00000272895.7:p.Tyr1563=
ENST00000389661.4:c.3735C>T	ENSP00000374312.4:p.Tyr1245=
NM_015657.3:c.3735C>T	NP_056472.2:p.Tyr1245=
NM_173076.2:c.4689C>T	NP_775099.2:p.Tyr1563=
NR_103740.1:n.4989C>T
XM_011510951.1:c.4698C>T	XP_011509253.1:p.Tyr1566=
XM_011510952.1:c.4698C>T	XP_011509254.1:p.Tyr1566=
XM_011510951.2:c.4698C>T	XP_011509253.1:p.Tyr1566=
NM_173076.3:c.4689C>T MANE Select	NP_775099.2:p.Tyr1563=
NR_103740.2:n.5187C>T
NM_015657.4:c.3735C>T	NP_056472.2:p.Tyr1245=