Canonical Allele Identifier: CA378117672

Gene: ABCC2

Linked Data

• dbSNP Id: rs1564688575
• gnomAD v3: 10-99818832-G-T
• gnomAD v4: 10-99818832-G-T
• MyVariant Identifiers: chr10:g.101578589G>T (hg19) ; chr10:g.99818832G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99818832G>T , CM000672.2:g.99818832G>T	GRCh38
NC_000010.10:g.101578589G>T , CM000672.1:g.101578589G>T	GRCh37
NC_000010.9:g.101568579G>T	NCBI36
NG_011798.1:g.41127G>T
NG_011798.2:g.41235G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647814.1:c.2314G>T MANE Select	ENSP00000497274.1:p.Ala772Ser
ENST00000370449.8:c.2314G>T	ENSP00000359478.4:p.Ala772Ser
NM_000392.4:c.2314G>T	NP_000383.1:p.Ala772Ser
XM_006717630.2:c.1618G>T	XP_006717693.1:p.Ala540Ser
XM_006717631.2:c.2314G>T	XP_006717694.1:p.Ala772Ser
XM_011539291.1:c.2314G>T	XP_011537593.1:p.Ala772Ser
XR_945604.1:n.2503G>T
XR_945605.1:n.2505G>T
NM_000392.5:c.2314G>T MANE Select	NP_000383.2:p.Ala772Ser
XM_006717630.3:c.1618G>T	XP_006717693.1:p.Ala540Ser
XM_006717631.4:c.2314G>T	XP_006717694.1:p.Ala772Ser
XM_011539291.3:c.2314G>T	XP_011537593.1:p.Ala772Ser
XM_017015675.2:c.2314G>T	XP_016871164.1:p.Ala772Ser
XR_945604.3:n.2557G>T
XR_945605.3:n.2557G>T