Canonical Allele Identifier: CA375219222

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308760G>C (hg19) ; chr9:g.130433373G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433373G>C , CM000671.2:g.130433373G>C	GRCh38
NC_000009.11:g.133308760G>C , CM000671.1:g.133308760G>C	GRCh37
NC_000009.10:g.132298581G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14863G>C	ENSP00000485357.2:p.Asp4955His
ENST00000683500.2:c.14920G>C MANE Select	ENSP00000508292.2:p.Asp4974His
ENST00000623487.1:n.3266G>C
ENST00000624552.3:c.14860G>C	ENSP00000485357.1:p.Asp4954His
NM_001291815.1:c.14920G>C	NP_001278744.1:p.Asp4974His
XM_011518465.1:c.14797G>C	XP_011516767.1:p.Asp4933His
XM_011518466.1:c.14788G>C	XP_011516768.1:p.Asp4930His
XM_011518467.1:c.14743G>C	XP_011516769.1:p.Asp4915His
NM_001291815.2:c.14920G>C MANE Select	NP_001278744.1:p.Asp4974His
XM_011518465.2:c.14797G>C	XP_011516767.1:p.Asp4933His
XM_011518466.2:c.14788G>C	XP_011516768.1:p.Asp4930His
XM_011518467.2:c.14743G>C	XP_011516769.1:p.Asp4915His
XM_017014585.1:c.11701G>C	XP_016870074.1:p.Asp3901His
XM_017014586.1:c.7498G>C	XP_016870075.1:p.Asp2500His
XR_001746957.1:n.92+248C>G
XR_001746958.1:n.92+248C>G