Canonical Allele Identifier: CA365621694

Gene: LAMA2

Linked Data

• dbSNP Id: rs141476898
• gnomAD v2: 6-129786341-G-C
• gnomAD v4: 6-129465196-G-C
• MyVariant Identifiers: chr6:g.129786341G>C (hg19) ; chr6:g.129465196G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129465196G>C , CM000668.2:g.129465196G>C	GRCh38
NC_000006.11:g.129786341G>C , CM000668.1:g.129786341G>C	GRCh37
NC_000006.10:g.129828034G>C	NCBI36
NG_008678.1:g.587056G>C , LRG_409:g.587056G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7207G>C	ENSP00000481744.2:p.Asp2403His
ENST00000618192.5:c.7471G>C	ENSP00000480802.2:p.Asp2491His
ENST00000684985.1:n.838G>C
ENST00000688150.1:n.546G>C
ENST00000421865.3:c.7207G>C MANE Select	ENSP00000400365.2:p.Asp2403His
ENST00000421865.2:c.7207G>C	ENSP00000400365.2:p.Asp2403His
ENST00000617695.4:c.7207G>C	ENSP00000481744.1:p.Asp2403His
ENST00000618192.4:c.7204G>C	ENSP00000480802.1:p.Asp2402His
NM_000426.3:c.7207G>C , LRG_409t1:c.7207G>C	NP_000417.2:p.Asp2403His
NM_001079823.1:c.7207G>C	NP_001073291.1:p.Asp2403His
XM_005266981.2:c.7471G>C	XP_005267038.1:p.Asp2491His
XM_005266982.2:c.7471G>C	XP_005267039.1:p.Asp2491His
XM_011535820.1:c.7465G>C	XP_011534122.1:p.Asp2489His
XM_005266981.3:c.7471G>C	XP_005267038.1:p.Asp2491His
XM_005266982.3:c.7471G>C	XP_005267039.1:p.Asp2491His
XM_011535820.2:c.7465G>C	XP_011534122.1:p.Asp2489His
XM_017010851.2:c.7477G>C	XP_016866340.1:p.Asp2493His
XM_017010852.1:c.5602G>C	XP_016866341.1:p.Asp1868His
NM_000426.4:c.7207G>C MANE Select	NP_000417.3:p.Asp2403His
NM_001079823.2:c.7207G>C	NP_001073291.2:p.Asp2403His