Canonical Allele Identifier: CA9018851

Gene: HCN2

Linked Data

• dbSNP Id: rs376136552
• ExAC: 19:615952 G / C
• gnomAD v2: 19-615952-G-C
• gnomAD v3: 19-615952-G-C
• gnomAD v4: 19-615952-G-C
• MyVariant Identifiers: chr19:g.615952G>C (hg19) ; chr19:g.615952G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.615952G>C , CM000681.2:g.615952G>C	GRCh38
NC_000019.9:g.615952G>C , CM000681.1:g.615952G>C	GRCh37
NC_000019.8:g.566952G>C	NCBI36
NG_023049.1:g.22617C>G
NG_052810.1:g.31060G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251287.3:c.2148G>C MANE Select	ENSP00000251287.1:p.Pro716=
ENST00000251287.2:c.2148G>C	ENSP00000251287.1:p.Pro716=
NM_001194.3:c.2148G>C	NP_001185.3:p.Pro716=
NM_001194.4:c.2148G>C MANE Select	NP_001185.3:p.Pro716=