Canonical Allele Identifier: CA2692135173

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433151-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433151T>C , CM000671.2:g.130433151T>C	GRCh38
NC_000009.11:g.133308538T>C , CM000671.1:g.133308538T>C	GRCh37
NC_000009.10:g.132298359T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14838-197T>C	ENSP00000485357.2:n.14838-197T>C
ENST00000683500.2:c.14895-197T>C MANE Select	ENSP00000508292.2:n.14895-197T>C
ENST00000623487.1:n.3044T>C
ENST00000624552.3:c.14835-197T>C	ENSP00000485357.1:n.14835-197T>C
NM_001291815.1:c.14895-197T>C	NP_001278744.1:n.14895-197T>C
XM_011518465.1:c.14772-197T>C	XP_011516767.1:n.14772-197T>C
XM_011518466.1:c.14763-197T>C	XP_011516768.1:n.14763-197T>C
XM_011518467.1:c.14718-197T>C	XP_011516769.1:n.14718-197T>C
NM_001291815.2:c.14895-197T>C MANE Select	NP_001278744.1:n.14895-197T>C
XM_011518465.2:c.14772-197T>C	XP_011516767.1:n.14772-197T>C
XM_011518466.2:c.14763-197T>C	XP_011516768.1:n.14763-197T>C
XM_011518467.2:c.14718-197T>C	XP_011516769.1:n.14718-197T>C
XM_017014585.1:c.11676-197T>C	XP_016870074.1:n.11676-197T>C
XM_017014586.1:c.7473-197T>C	XP_016870075.1:n.7473-197T>C
XR_001746957.1:n.92+470A>G
XR_001746958.1:n.92+470A>G