Canonical Allele Identifier: CA375219139

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308736A>C (hg19) ; chr9:g.130433349A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433349A>C , CM000671.2:g.130433349A>C	GRCh38
NC_000009.11:g.133308736A>C , CM000671.1:g.133308736A>C	GRCh37
NC_000009.10:g.132298557A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14839A>C	ENSP00000485357.2:p.Thr4947Pro
ENST00000683500.2:c.14896A>C MANE Select	ENSP00000508292.2:p.Thr4966Pro
ENST00000623487.1:n.3242A>C
ENST00000624552.3:c.14836A>C	ENSP00000485357.1:p.Thr4946Pro
NM_001291815.1:c.14896A>C	NP_001278744.1:p.Thr4966Pro
XM_011518465.1:c.14773A>C	XP_011516767.1:p.Thr4925Pro
XM_011518466.1:c.14764A>C	XP_011516768.1:p.Thr4922Pro
XM_011518467.1:c.14719A>C	XP_011516769.1:p.Thr4907Pro
NM_001291815.2:c.14896A>C MANE Select	NP_001278744.1:p.Thr4966Pro
XM_011518465.2:c.14773A>C	XP_011516767.1:p.Thr4925Pro
XM_011518466.2:c.14764A>C	XP_011516768.1:p.Thr4922Pro
XM_011518467.2:c.14719A>C	XP_011516769.1:p.Thr4907Pro
XM_017014585.1:c.11677A>C	XP_016870074.1:p.Thr3893Pro
XM_017014586.1:c.7474A>C	XP_016870075.1:p.Thr2492Pro
XR_001746957.1:n.92+272T>G
XR_001746958.1:n.92+272T>G