Canonical Allele Identifier: CA2132051

Gene: INHA

Linked Data

• ClinVar Variation Id: 402979
• ClinVar RCV Id: RCV000456099 ; RCV001258300 ; RCV003912792
• dbSNP Id: rs12720062
• ExAC: 2:220439916 G / A
• gnomAD v2: 2-220439916-G-A
• gnomAD v3: 2-219575194-G-A
• gnomAD v4: 2-219575194-G-A
• MyVariant Identifiers: chr2:g.220439916G>A (hg19) ; chr2:g.219575194G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219575194G>A , CM000664.2:g.219575194G>A	GRCh38
NC_000002.11:g.220439916G>A , CM000664.1:g.220439916G>A	GRCh37
NC_000002.10:g.220148160G>A	NCBI36
NG_016977.1:g.1353C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243786.3:c.769G>A MANE Select	ENSP00000243786.2:p.Ala257Thr
ENST00000243786.2:c.769G>A	ENSP00000243786.2:p.Ala257Thr
NM_002191.3:c.769G>A	NP_002182.1:p.Ala257Thr
NM_002191.4:c.769G>A MANE Select	NP_002182.1:p.Ala257Thr