Canonical Allele Identifier: CA375219587

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308850A>C (hg19) ; chr9:g.130433463A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433463A>C , CM000671.2:g.130433463A>C	GRCh38
NC_000009.11:g.133308850A>C , CM000671.1:g.133308850A>C	GRCh37
NC_000009.10:g.132298671A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14953A>C	ENSP00000485357.2:p.Thr4985Pro
ENST00000683500.2:c.15010A>C MANE Select	ENSP00000508292.2:p.Thr5004Pro
ENST00000623487.1:n.3356A>C
ENST00000624552.3:c.14950A>C	ENSP00000485357.1:p.Thr4984Pro
NM_001291815.1:c.15010A>C	NP_001278744.1:p.Thr5004Pro
XM_011518465.1:c.14887A>C	XP_011516767.1:p.Thr4963Pro
XM_011518466.1:c.14878A>C	XP_011516768.1:p.Thr4960Pro
XM_011518467.1:c.14833A>C	XP_011516769.1:p.Thr4945Pro
NM_001291815.2:c.15010A>C MANE Select	NP_001278744.1:p.Thr5004Pro
XM_011518465.2:c.14887A>C	XP_011516767.1:p.Thr4963Pro
XM_011518466.2:c.14878A>C	XP_011516768.1:p.Thr4960Pro
XM_011518467.2:c.14833A>C	XP_011516769.1:p.Thr4945Pro
XM_017014585.1:c.11791A>C	XP_016870074.1:p.Thr3931Pro
XM_017014586.1:c.7588A>C	XP_016870075.1:p.Thr2530Pro
XR_001746957.1:n.92+158T>G
XR_001746958.1:n.92+158T>G