Canonical Allele Identifier: CA467387255

Gene: HMCN2

Linked Data

• dbSNP Id: rs1395976524
• MyVariant Identifiers: chr9:g.133308834C>T (hg19) ; chr9:g.130433447C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433447C>T , CM000671.2:g.130433447C>T	GRCh38
NC_000009.11:g.133308834C>T , CM000671.1:g.133308834C>T	GRCh37
NC_000009.10:g.132298655C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14937C>T	ENSP00000485357.2:p.His4979=
ENST00000683500.2:c.14994C>T MANE Select	ENSP00000508292.2:p.His4998=
ENST00000623487.1:n.3340C>T
ENST00000624552.3:c.14934C>T	ENSP00000485357.1:p.His4978=
NM_001291815.1:c.14994C>T	NP_001278744.1:p.His4998=
XM_011518465.1:c.14871C>T	XP_011516767.1:p.His4957=
XM_011518466.1:c.14862C>T	XP_011516768.1:p.His4954=
XM_011518467.1:c.14817C>T	XP_011516769.1:p.His4939=
NM_001291815.2:c.14994C>T MANE Select	NP_001278744.1:p.His4998=
XM_011518465.2:c.14871C>T	XP_011516767.1:p.His4957=
XM_011518466.2:c.14862C>T	XP_011516768.1:p.His4954=
XM_011518467.2:c.14817C>T	XP_011516769.1:p.His4939=
XM_017014585.1:c.11775C>T	XP_016870074.1:p.His3925=
XM_017014586.1:c.7572C>T	XP_016870075.1:p.His2524=
XR_001746957.1:n.92+174G>A
XR_001746958.1:n.92+174G>A