Canonical Allele Identifier: CA173519056

Gene: NAT2

Linked Data

• dbSNP Id: rs764082546
• gnomAD v2: 8-18251020-T-C
• gnomAD v3: 8-18393510-T-C
• gnomAD v4: 8-18393510-T-C
• MyVariant Identifiers: chr8:g.18251020T>C (hg19) ; chr8:g.18393510T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18393510T>C , CM000670.2:g.18393510T>C	GRCh38
NC_000008.10:g.18251020T>C , CM000670.1:g.18251020T>C	GRCh37
NC_000008.9:g.18295300T>C	NCBI36
NG_012246.1:g.7266T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286479.4:c.-7+2165T>C MANE Select	ENSP00000286479.3:n.-7+2165T>C
ENST00000286479.3:c.-7+2165T>C	ENSP00000286479.3:n.-7+2165T>C
ENST00000520116.1:c.-58+2165T>C	ENSP00000428416.1:n.-58+2165T>C
NM_000015.2:c.-7+2165T>C	NP_000006.2:n.-7+2165T>C
XM_011544358.1:c.-7+774T>C	XP_011542660.1:n.-7+774T>C
XM_017012938.1:c.-7+6474T>C	XP_016868427.1:n.-7+6474T>C
NM_000015.3:c.-7+2165T>C MANE Select	NP_000006.2:n.-7+2165T>C